Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
0.800 | 1.000 | 12 | 1994 | 2009 | ||||||||
|
0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 |
|
0.800 | 1.000 | 12 | 1994 | 2009 | ||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
0.800 | 1.000 | 12 | 1994 | 2009 | ||||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
0.800 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
0.851 | 0.200 | 9 | 21971183 | missense variant | A/C;T | snv | 4.6E-06 |
|
0.800 | 1.000 | 12 | 1994 | 2009 | ||||||||
|
1.000 | 9 | 21971109 | missense variant | C/A;T | snv | 4.3E-06 |
|
0.700 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
1.000 | 9 | 21971094 | missense variant | C/T | snv | 4.3E-06 |
|
0.800 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
0.882 | 0.080 | 9 | 21971093 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
0.925 | 0.040 | 9 | 21971007 | missense variant | C/T | snv |
|
0.700 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
1.000 | 9 | 21974679 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
1.000 | 9 | 21974724 | missense variant | C/A;G;T | snv | 4.1E-06; 1.2E-05 |
|
0.700 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
0.882 | 0.200 | 9 | 21971100 | missense variant | G/A | snv | 8.6E-06 | 7.0E-06 |
|
0.700 | 1.000 | 12 | 1994 | 2009 | |||||||
|
0.882 | 0.080 | 9 | 21971160 | missense variant | C/G;T | snv | 4.7E-06; 4.7E-06 |
|
0.700 | 1.000 | 12 | 1994 | 2009 | ||||||||
|
1.000 | 9 | 21971139 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 12 | 1994 | 2009 | ||||||||||
|
0.925 | 0.120 | 9 | 21971156 | missense variant | GC/AA | mnv |
|
0.700 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
0.882 | 0.120 | 9 | 21971099 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
0.925 | 0.120 | 9 | 21974733 | missense variant | A/G | snv |
|
0.700 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
9 | 21986848 | intron variant | T/A | snv | 0.74 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||||
|
0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
9 | 21990458 | intron variant | C/T | snv | 0.74 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.851 | 0.080 | 9 | 21974571 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.160 | 9 | 21974682 | missense variant | A/C;G | snv | 6.3E-04 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.240 | 9 | 21968160 | 3 prime UTR variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |